P14Q (p.Pro14Gln) variant of TAFAZZIN (Q16635)
P14Q (p.Pro14Gln) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P14Q (p.Pro14Gln) variant details
- p.Pro14Gln
- rs2522919267
- ClinGen CA415178142
- ClinVar RCV002300862
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 18.00
- PolyPhen-2 0.49
- SIFT 0.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available